✓ Osteochondromas (or osteocartilaginous exostoses) make up about 30% to 40% of benign bone tumors. Most are solitary lesions but some are multiple, usually with autosomal dominant inheritance. From 1% to 4% of osteochondromas occur in the spine, where they can cause a variety of signs and symptoms, including those of spinal cord or spinal root compression. The authors present five patients with osteochondromas of the spine and review the findings together with those of over 130 cases reported since 1907. The cases were divided into: 1) spinal osteochondromas in patients with multiple osteochondromas, and 2) solitary osteochondromas occurring in the spine. The age (mean ± standard error of the mean) of patients in the first group was 21.6 ± 1.8 years compared to 30.0 ± 2.1 years for those in the second group (p < 0.02). There was a significant male predominance overall (M:F = 2.5:1; p < 0.0005). In both groups, one-half of the lesions involved the cervical spine. Symptoms are caused by pressure on adjacent structures. Spinal cord compression was reported more than twice as frequently in the multiple osteochondroma group as in the single osteochondroma group (77% vs 33%; p < 0.0005). Computerized tomography (CT) is the imaging procedure of choice. In both groups, the majority of surgically treated patients (90% and 88%, respectively) improve, with about three-quarters of the improved patients having no residual disease or only minor deficits.
Steffen Albrecht, J. Stewart Crutchfield, and Gary K. SeGall
Steffen Albrecht, J. Clay Goodman, Sri Rajagopolan, Moise Levy, David A. Cech, and Linda D. Cooley
✓ Gorlin's syndrome, also known as multiple basal cell carcinoma syndrome, is a familial tumor condition with autosomal-dominant inheritance. Patients develop multiple basal cell carcinomas beginning in childhood. They also have a typical dysmorphic facies, skeletal malformations, and a particular type of epithelial cyst of the jaws. Recent evidence localizes a Gorlin's syndrome locus on chromosome 9 at band q31. Both tumors and malformations of the central nervous system occur with Gorlin's syndrome. Medulloblastoma is the primary brain tumor most frequently associated with this syndrome; over 40 such cases have been reported. However, only seven cases of meningioma associated with Gorlin's syndrome have been described.
The authors report the case of a woman with Gorlin's syndrome whose mother and maternal grandfather also had the condition. The patient was found to have a medulloblastoma at 4 years of age and presented with a large bifrontal meningioma at 19 years of age. The meningioma was histologically malignant and had a complex karyotype with multiple translocations including a t(5;9) with the breakpoint on chromosome 9 located at 9q32. The constitutional karyotype of the mother was normal. No mutations of exons 5 to 9 of the p53 gene were detected using single-stranded conformational polymorphism analysis.
Alexander G. Weil, Natalie Mathews, Jean-Pierre Farmer, Christine St. Martin, Steffen Albrecht, Nada Jabado, and Roy W. R. Dudley
Here, the authors present 2 cases of nongerminomatous germ cell tumor (NGGCT): a neonate with a mixed malignant germ cell tumor, 5% yolk sac tumor (YST) and 95% immature teratoma components, originating from the right mesial temporal lobe; and a 2-month-old infant with a pure YST originating from the left middle cranial fossa. These tumors with yolk sac components, which are thought to have a poor prognosis, were successfully treated with complete tumor resection alone and subtotal tumor resection with chemotherapy, respectively. Event-free survival exceeds 5 years for each patient even though neither received radiotherapy. The authors highlight the role of radical surgery and the successful treatment of neonatal YST with aggressive resection (and chemotherapy in 1 case) while avoiding radiation therapy. They also report the very rare non-midline location of these neonatal NGGCTs and emphasize the importance of considering YSTs and mixed NGGCTs with YST components in the differential diagnosis of non-midline hemispheric or skull base tumors in newborns.
George A. Younis, Raymond Sawaya, Franco DeMonte, Kenneth R. Hess, Steffen Albrecht, and Janet M. Bruner
✓ A series of 25 patients with aggressive meningeal tumors was studied to determine the efficacy of various management options. The median age of the patients was 52 years, with a range of 13 to 73 years. A marked male preponderance (64%) was noted. Twenty of 25 patients experienced recurrence during a median follow-up time of 47 months. Survival and freedom from recurrence varied with histological diagnosis. Recurrence was noted sooner in patients who had received partial resections on first presentation of tumor than in those who had received total resections at first presentation. Survival time was also shorter for patients who underwent partial resections at first presentation than for patients who underwent total resections.
Patients' prognoses did not improve as a result of either chemotherapy or radiotherapy. Of six patients with extracranial metastases, the median time to metastasis was 102 months, with a 5-year metastasis-free rate of 85%. The most common sites of metastasis in these six patients were lung and bone. In each tumor type, histological features used in diagnosis and radiological features studied from computerized tomography and magnetic resonance imaging were evaluated, compared, and discussed. Of eight patients studied with an in vivo bromodeoxyuridine (BUdR) labeling index (LI), seven showed an LI of 1% or more. The authors support the incorporation of the BUdR LI into the diagnostic process to provide a better estimate of the potential for tumor recurrence.
Jack Lam, Patricia Tomaszewski, Guillaume Gilbert, Jeremy T. Moreau, Marie-Christine Guiot, Steffen Albrecht, Jean-Pierre Farmer, Jeffrey Atkinson, Christine Saint-Martin, Pia Wintermark, Boris Bernhardt, Sylvain Baillet, and Roy W. R. Dudley
The authors sought to assess the utility of arterial spin labeling (ASL) perfusion 3T-MRI for the presurgical evaluation of poorly defined focal epilepsy in pediatric patients.
Pseudocontinuous ASL perfusion 3T-MRI was performed in 25 consecutive children with poorly defined focal epilepsy. ASL perfusion abnormalities were detected qualitatively by visual inspection and quantitatively by calculating asymmetry index (AI) maps and significant z-score cluster maps based on successfully operated cases. ASL results were prospectively compared to scalp EEG, structural 3T-MRI, FDG-PET, ictal/interictal SPECT, magnetoencephalography (MEG), and intracranial recording results, as well as the final surgically proven epileptogenic zone (EZ) in operated patients who had at least 1 year of good (Engel class I/II) seizure outcome and positive histopathology results.
Qualitative ASL perfusion abnormalities were found in 17/25 cases (68%), specifically in 17/20 MRI-positive cases (85.0%) and in none of the 5 MRI-negative cases. ASL was concordant with localizing scalp EEG findings in 66.7%, structural 3T-MRI in 90%, FDG-PET in 75%, ictal/interictal SPECT in 62.5%, and MEG in 75% of cases, and with intracranial recording results in 40% of cases. Eleven patients underwent surgery; in all 11 cases the EZ was surgically proven by positive histopathology results and the patient having at least 1 year of good seizure outcome. ASL results were concordant with this final surgically proven EZ in 10/11 cases (sensitivity 91%, specificity 50%). All 10 ASL-positive patients who underwent surgery had positive surgical pathology results and good long-term postsurgical seizure outcome at a mean follow-up of 39 months. Retrospective quantitative analysis based on significant z-score clusters found 1 true-positive result that was missed by qualitative analysis and 3 additional false-positive results (sensitivity 100%, specificity 23%).
ASL supports the hypothesis regarding the EZ in poorly defined focal epilepsy cases in children. Due to its convenience and noninvasive nature, the authors recommend that ASL be added routinely to the presurgical MRI evaluation of epilepsy. Future optimized quantitative methods may improve the diagnostic yield of this technique.